Queston #21061Note

Acute intermittent porphyria = an autosomal dominant disorder caused by a deficiency of porphobilinogen deaminase 

Typical porphyia attack 
– severe and diffuse abdominal pain and nausea, followed by a confused state with psychiatric disturbances 
– provoking factors: ETOH and CYP-450 inducing medications

A motor-predominant peripheral neuropathy occurs in up to 40% of patients during an acute attack 

Patients also often noted to have “port-wine” colored urine due to the excretion of porphyrin metabolites (aminoaevulinic acid and porphobilinogen) <– checking for these in urine can lead to diagnosis